NADK2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 152724	GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3	ADAMTS12, ADAMTS16 +530 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 1523201	NM_001085411.3(NADK2):c.1310C>T (p.Thr437Ile)	NADK2 (T274I +2 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 3026372	NM_001085411.3(NADK2):c.1305T>G (p.Leu435=)	NADK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2469266	NM_001085411.3(NADK2):c.1296A>T (p.Glu432Asp)	NADK2 (E269D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1427734	NM_001085411.3(NADK2):c.1277C>T (p.Ser426Leu)	NADK2 (S263L +2 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 959061	NM_001085411.3(NADK2):c.1270A>G (p.Ile424Val)	NADK2 (I261V +2 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 2738933	NM_001085411.3(NADK2):c.1248T>G (p.Ser416=)	NADK2	Single nucleotide variant (synonymous variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 2875080	NM_001085411.3(NADK2):c.1236T>C (p.Asp412=)	NADK2	Single nucleotide variant (synonymous variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 2832870	NM_001085411.3(NADK2):c.1235A>G (p.Asp412Gly)	NADK2 (D412G +2 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 2912678	NM_001085411.3(NADK2):c.1229T>C (p.Val410Ala)	NADK2 (V410A +2 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 798229	NM_001085411.3(NADK2):c.1225A>G (p.Met409Val)	NADK2 (M409V +2 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1634430	NM_001085411.3(NADK2):c.1221C>G (p.Ala407=)	NADK2	Single nucleotide variant (synonymous variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 764749	NM_001085411.3(NADK2):c.1218T>C (p.Asp406=)	NADK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013040	NM_001085411.3(NADK2):c.1210T>G (p.Cys404Gly)	NADK2 (C241G +2 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 1990508	NM_001085411.3(NADK2):c.1202G>A (p.Arg401His)	NADK2 (R238H +2 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 508264	NM_001085411.3(NADK2):c.1191-6G>T	NADK2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1321582	NM_001085411.3(NADK2):c.1191-64T>G	NADK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235193	NM_001085411.3(NADK2):c.1191-64T>C	NADK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2740993	NM_001085411.3(NADK2):c.1190+12C>G	NADK2	Single nucleotide variant (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 1036792	NM_001085411.3(NADK2):c.1190+6C>T	NADK2	Single nucleotide variant (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency +1 more	GUncertain significance
Select item 1639639	NM_001085411.3(NADK2):c.1176T>C (p.Arg392=)	NADK2	Single nucleotide variant (synonymous variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 2722590	NM_001085411.3(NADK2):c.1175G>A (p.Arg392His)	NADK2 (R251H +2 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 2187785	NM_001085411.3(NADK2):c.1168C>T (p.Arg390Cys)	NADK2 (R390C +2 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 1695123	NM_001085411.3(NADK2):c.1152A>G (p.Arg384=)	NADK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 518098	NM_001085411.3(NADK2):c.1149T>C (p.Asn383=)	NADK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1503907	NM_001085411.3(NADK2):c.1133G>A (p.Arg378Gln)	NADK2 (R215Q +2 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 380573	NM_001085411.3(NADK2):c.1104G>A (p.Pro368=)	NADK2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1375190	NM_001085411.3(NADK2):c.1103C>T (p.Pro368Leu)	NADK2 (P227L +2 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency +1 more	GUncertain significance
Select item 2177148	NM_001085411.3(NADK2):c.1090C>T (p.Leu364=)	NADK2	Single nucleotide variant (synonymous variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 1931694	NM_001085411.3(NADK2):c.1073A>G (p.Asn358Ser)	NADK2 (N358S +2 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 2018767	NM_001085411.3(NADK2):c.1067-4G>T	NADK2	Single nucleotide variant (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 2057513	NM_001085411.3(NADK2):c.1067-11_1067-9del	NADK2	Deletion (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 1536793	NM_001085411.3(NADK2):c.1067-20_1067-19insTA	NADK2	Insertion (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 1212198	NM_001085411.3(NADK2):c.1067-56C>T	NADK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1321758	NM_001085411.3(NADK2):c.1067-134C>T	NADK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181091	NM_001085411.3(NADK2):c.1067-169dup	NADK2	Duplication (intron variant)	not provided	GBenign
Select item 1242490	NM_001085411.3(NADK2):c.1066+167C>G	NADK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195026	NM_001085411.3(NADK2):c.1066+95T>C	NADK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2888157	NM_001085411.3(NADK2):c.1066+12A>G	NADK2	Single nucleotide variant (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 2068614	NM_001085411.3(NADK2):c.1056G>A (p.Leu352=)	NADK2	Single nucleotide variant (synonymous variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 1525586	NM_001085411.3(NADK2):c.1047C>G (p.Asn349Lys)	NADK2 (N208K +2 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 2173730	NM_001085411.3(NADK2):c.1019G>A (p.Arg340Gln)	NADK2 (R340Q +2 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 156239	NM_001085411.3(NADK2):c.1018C>T (p.Arg340Ter)	NADK2 (R340* +2 more)	Single nucleotide variant (nonsense)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely pathogenic
Select item 2740906	NM_001085411.3(NADK2):c.1014A>G (p.Ala338=)	NADK2	Single nucleotide variant (synonymous variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 2158097	NM_001085411.3(NADK2):c.1013-7T>A	NADK2	Single nucleotide variant (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 2727557	NM_001085411.3(NADK2):c.1013-13_1013-9del	NADK2	Microsatellite (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 383909	NM_001085411.3(NADK2):c.1013-17C>T	NADK2	Single nucleotide variant (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency +1 more	GBenign/Likely benign
Select item 1285934	NM_001085411.3(NADK2):c.1013-29_1013-28dup	NADK2	Duplication (intron variant)	not provided	GBenign
Select item 1326688	NM_001085411.3(NADK2):c.1013-105T>A	NADK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1542579	NM_001085411.3(NADK2):c.1012+19A>G	NADK2	Single nucleotide variant (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 3002508	NM_001085411.3(NADK2):c.1012+3G>A	NADK2	Single nucleotide variant (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 1440652	NM_001085411.3(NADK2):c.1006A>G (p.Asn336Asp)	NADK2 (N336D +2 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 3298364	NM_001085411.3(NADK2):c.976G>A (p.Val326Ile)	NADK2 (V185I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1986815	NM_001085411.3(NADK2):c.972C>T (p.Asn324=)	NADK2	Single nucleotide variant (synonymous variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 2022816	NM_001085411.3(NADK2):c.966T>C (p.Asn322=)	NADK2	Single nucleotide variant (synonymous variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 2904468	NM_001085411.3(NADK2):c.965A>G (p.Asn322Ser)	NADK2 (N159S +2 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 746900	NM_001085411.3(NADK2):c.957-4C>T	NADK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1556663	NM_001085411.3(NADK2):c.957-9del	NADK2	Deletion (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GBenign
Select item 1553147	NM_001085411.3(NADK2):c.957-19A>C	NADK2	Single nucleotide variant (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 1265576	NM_001085411.3(NADK2):c.957-48G>C	NADK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268762	NM_001085411.3(NADK2):c.957-73G>A	NADK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196370	NM_001085411.3(NADK2):c.957-101T>C	NADK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1944725	NM_001085411.3(NADK2):c.956+20G>T	NADK2	Single nucleotide variant (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 830231	NM_001085411.3(NADK2):c.956+6T>C	NADK2	Single nucleotide variant (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GPathogenic
Select item 512778	NM_001085411.3(NADK2):c.951G>A (p.Lys317=)	NADK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3054463	NM_001085411.3(NADK2):c.891T>C (p.Asp297=)	NADK2	Single nucleotide variant (synonymous variant)	NADK2-related disorder	GLikely benign
Select item 534665	NM_001085411.3(NADK2):c.864T>C (p.Ala288=)	NADK2	Single nucleotide variant (synonymous variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 1350335	NM_001085411.3(NADK2):c.861-19T>C	NADK2	Single nucleotide variant (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 1321745	NM_001085411.3(NADK2):c.861-33del	NADK2	Deletion (intron variant)	not provided	GLikely benign
Select item 1273492	NM_001085411.3(NADK2):c.861-57C>A	NADK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1321593	NM_001085411.3(NADK2):c.861-150T>C	NADK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263296	NM_001085411.3(NADK2):c.861-194dup	NADK2	Duplication (intron variant)	not provided	GBenign
Select item 1212434	NM_001085411.3(NADK2):c.861-1267C>G	NADK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3048482	NM_001085411.3(NADK2):c.861-1417A>G	NADK2 (Y127C)	Single nucleotide variant (missense variant +1 more)	NADK2-related disorder	GLikely benign
Select item 1327182	NM_001085411.3(NADK2):c.860+96A>C	NADK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1599017	NM_001085411.3(NADK2):c.860+8del	NADK2	Deletion (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GBenign
Select item 1516023	NM_001085411.3(NADK2):c.839T>C (p.Ile280Thr)	NADK2 (I117T +1 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 391088	NM_001085411.3(NADK2):c.822A>T (p.Ala274=)	NADK2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1439436	NM_001085411.3(NADK2):c.803A>G (p.Gln268Arg)	NADK2 (Q105R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1447093	NM_001085411.3(NADK2):c.784del (p.Ser262fs)	NADK2 (S262fs +1 more)	Deletion (frameshift variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 1418331	NM_001085411.3(NADK2):c.783G>T (p.Arg261Ser)	NADK2 (R261S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2243582	NM_001085411.3(NADK2):c.782-5T>C	NADK2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1234505	NM_001085411.3(NADK2):c.782-193G>A	NADK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222571	NM_001085411.3(NADK2):c.781+85_781+86insATGATTA	NADK2	Insertion (intron variant)	not provided	GBenign
Select item 2898675	NM_001085411.3(NADK2):c.781+16A>T	NADK2	Single nucleotide variant (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 1609683	NM_001085411.3(NADK2):c.781+13_781+14dup	NADK2	Duplication (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 945558	NM_001085411.3(NADK2):c.777T>A (p.Asp259Glu)	NADK2 (D259E +1 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 1031067	NM_001085411.3(NADK2):c.773A>G (p.His258Arg)	NADK2 (H258R +1 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 3173197	NM_001085411.3(NADK2):c.769G>A (p.Ala257Thr)	NADK2 (A94T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2434021	NM_001085411.3(NADK2):c.760A>G (p.Ile254Val)	NADK2 (I254V +1 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 1354273	NM_001085411.3(NADK2):c.749G>C (p.Arg250Thr)	NADK2 (R87T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2741858	NM_001085411.3(NADK2):c.746A>G (p.Asn249Ser)	NADK2 (N249S +1 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 2030123	NM_001085411.3(NADK2):c.739C>T (p.Gln247Ter)	NADK2 (Q84* +1 more)	Single nucleotide variant (nonsense)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 2059114	NM_001085411.3(NADK2):c.722A>G (p.Gln241Arg)	NADK2 (Q78R +1 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance

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